Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the parathyroid gland (HP:0000828)help
Parent Node:
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Abnormality of the parathyroid physiology (HP:0011767)help
..Starting node
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Hyperparathyroidism (HP:0000843)help
Term ID: 843
Name: Hyperparathyroidism
Synonym: Elevated blood parathyroid hormone level
Definition: Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Comments:
Reference: HP:0000843
Genes and Diseases:
 
       Child Nodes:
........expandSecondary hyperparathyroidism (HP:0000867) help
........expandPrimary hyperparathyroidism (HP:0008200) help
........expandTertiary hyperparathyroidism (HP:0011770) help

 Sister Nodes: 
..expandHypoparathyroidism (HP:0000829) help
..expandPseudohypoparathyroidism (HP:0000852) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000843HP:0000843Hyperparathyroidism0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040283 - Occasional23
HP:0000843HP:0000843Hyperparathyroidism0AP2S1 CL E G H1175565OMIM:600740Hypocalciuric hypercalcemia, familial, type III6
HP:0000843HP:0000843Hyperparathyroidism0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0000843HP:0000843Hyperparathyroidism0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0000843HP:0000843Hyperparathyroidism0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe272
HP:0000843HP:0000843Hyperparathyroidism0CASR CL E G H8461514OMIM:145980Hypocalciuric hypercalcemia, familial, type I.272
HP:0000843HP:0000843Hyperparathyroidism0CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidism169
HP:0000843HP:0000843Hyperparathyroidism0CDC73 CL E G H7957716783OMIM:145000Hyperparathyroidism 1169
HP:0000843HP:0000843Hyperparathyroidism0CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0000843HP:0000843Hyperparathyroidism0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0000843HP:0000843Hyperparathyroidism0CDC73 CL E G H7957716783OMIM:608266Parathyroid carcinoma.169
HP:0000843HP:0000843Hyperparathyroidism0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0000843HP:0000843Hyperparathyroidism0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0000843HP:0000843Hyperparathyroidism0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0000843HP:0000843Hyperparathyroidism0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040281 - Very frequent102
HP:0000843HP:0000843Hyperparathyroidism0CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0000843HP:0000843Hyperparathyroidism0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0000843HP:0000843Hyperparathyroidism0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0000843HP:0000843Hyperparathyroidism0CLDN10 CL E G H90712033OMIM:617671Helix syndrome3
HP:0000843HP:0000843Hyperparathyroidism0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent rickets41
HP:0000843HP:0000843Hyperparathyroidism0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A41
HP:0000843HP:0000843Hyperparathyroidism0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent rickets5
HP:0000843HP:0000843Hyperparathyroidism0FOXI1 CL E G H22993815ORPHA:705Pendred syndromeHP:0040283 - Occasional33
HP:0000843HP:0000843Hyperparathyroidism0GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidism51
HP:0000843HP:0000843Hyperparathyroidism0GCM2 CL E G H92474198OMIM:617343Hyperparathyroidism 451
HP:0000843HP:0000843Hyperparathyroidism0GNA11 CL E G H27674379OMIM:145981Hypocalciuric hypercalcemia, familial, type II16
HP:0000843HP:0000843Hyperparathyroidism0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0000843HP:0000843Hyperparathyroidism0GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic.101
HP:0000843HP:0000843Hyperparathyroidism0KCNJ10 CL E G H37666256ORPHA:705Pendred syndromeHP:0040283 - Occasional121
HP:0000843HP:0000843Hyperparathyroidism0MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidism462
HP:0000843HP:0000843Hyperparathyroidism0MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0000843HP:0000843Hyperparathyroidism0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0000843HP:0000843Hyperparathyroidism0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0000843HP:0000843Hyperparathyroidism0PLEKHM1 CL E G H984229017OMIM:618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA32
HP:0000843HP:0000843Hyperparathyroidism0RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0000843HP:0000843Hyperparathyroidism0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatalHP:0040283 - Occasional75
HP:0000843HP:0000843Hyperparathyroidism0SLC26A4 CL E G H51728818ORPHA:705Pendred syndromeHP:0040283 - Occasional274
HP:0000843HP:0000843Hyperparathyroidism0VDR CL E G H742112679ORPHA:93160Hypocalcemic vitamin D-resistant ricketsHP:0040281 - Very frequent104
HP:0000843HP:0000843Hyperparathyroidism0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A104
HP:0000843HP:0000843Hyperparathyroidism0YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0000843HP:0011770Tertiary hyperparathyroidism1 CL E G H
HP:0000843HP:0008200Primary hyperparathyroidism1AP2S1 CL E G H1175565OMIM:600740Hypocalciuric hypercalcemia, familial, type III.6
HP:0000843HP:0008200Primary hyperparathyroidism1ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0000843HP:0000867Secondary hyperparathyroidism1CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0000843HP:0008200Primary hyperparathyroidism1CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0000843HP:0008200Primary hyperparathyroidism1CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent169
HP:0000843HP:0008200Primary hyperparathyroidism1CDC73 CL E G H7957716783OMIM:145000Hyperparathyroidism 1.169
HP:0000843HP:0008200Primary hyperparathyroidism1CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040280 - Obligate169
HP:0000843HP:0008200Primary hyperparathyroidism1CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040280 - Obligate169
HP:0000843HP:0008200Primary hyperparathyroidism1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent2
HP:0000843HP:0008200Primary hyperparathyroidism1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent102
HP:0000843HP:0008200Primary hyperparathyroidism1CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0000843HP:0008200Primary hyperparathyroidism1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent1
HP:0000843HP:0008200Primary hyperparathyroidism1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent
HP:0000843HP:0000867Secondary hyperparathyroidism1CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent41
HP:0000843HP:0000867Secondary hyperparathyroidism1CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0000843HP:0000867Secondary hyperparathyroidism1CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent5
HP:0000843HP:0008200Primary hyperparathyroidism1GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent51
HP:0000843HP:0008200Primary hyperparathyroidism1GCM2 CL E G H92474198OMIM:617343Hyperparathyroidism 4.51
HP:0000843HP:0008200Primary hyperparathyroidism1GNA11 CL E G H27674379OMIM:145981Hypocalciuric hypercalcemia, familial, type II.16
HP:0000843HP:0008200Primary hyperparathyroidism1GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0000843HP:0008200Primary hyperparathyroidism1MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent462
HP:0000843HP:0008200Primary hyperparathyroidism1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040282 - Frequent462
HP:0000843HP:0008200Primary hyperparathyroidism1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent462
HP:0000843HP:0000867Secondary hyperparathyroidism1VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0000843HP:0008200Primary hyperparathyroidism1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040282 - Frequent7


Genes (26) :ACTG2 AP2S1 ARMC5 CA2 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CLDN10 CYP27B1 CYP2R1 FOXI1 GCM2 GNA11 GNAS KCNJ10 MEN1 OCRL PLEKHM1 RET SLC12A1 SLC26A4 VDR YY1

Diseases (29) :ORPHA:2604 OMIM:600740 ORPHA:189427 ORPHA:2785 OMIM:239200 OMIM:145980 ORPHA:99879 OMIM:145000 OMIM:145001 ORPHA:99880 OMIM:608266 ORPHA:143 ORPHA:652 ORPHA:276152 OMIM:610755 OMIM:617671 ORPHA:289157 OMIM:264700 ORPHA:705 OMIM:617343 OMIM:145981 OMIM:174800 ORPHA:97279 ORPHA:534 OMIM:618107 OMIM:171400 OMIM:601678 ORPHA:93160 OMIM:277440
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.